Canonical Allele Identifier: CA764966062

Gene: DES

Linked Data

• dbSNP Id: rs1165492196
• MyVariant Identifiers: chr2:g.220285873_220285874insT (hg19) ; chr2:g.219421151_219421152insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421152dup , CM000664.2:g.219421152dup	GRCh38
NC_000002.11:g.220285874dup , CM000664.1:g.220285874dup	GRCh37
NC_000002.10:g.219994118dup	NCBI36
NG_008043.1:g.7776dup , LRG_380:g.7776dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.498-188dup
ENST00000683013.1:n.412-188dup
ENST00000373960.4:c.1024-188dup MANE Select	ENSP00000363071.3:n.1024-188dup
ENST00000373960.3:c.1024-188dup	ENSP00000363071.3:n.1024-188dup
ENST00000477226.5:n.496-188dup
ENST00000492726.1:n.419-188dup
NM_001927.3:c.1024-188dup , LRG_380t1:c.1024-188dup	NP_001918.3:n.1024-188dup
NM_001927.4:c.1024-188dup MANE Select	NP_001918.3:n.1024-188dup
NM_001382708.1:c.1021-188dup	NP_001369637.1:n.1021-188dup
NM_001382709.1:c.736-332dup	NP_001369638.1:n.736-332dup
NM_001382710.1:c.1023+199dup	NP_001369639.1:n.1023+199dup
NM_001382711.1:c.1023+199dup	NP_001369640.1:n.1023+199dup
NM_001382712.1:c.1024-188dup	NP_001369641.1:n.1024-188dup
NM_001382713.1:c.754-188dup	NP_001369642.1:n.754-188dup